Canonical Allele Identifier: CA1543965
Gene: MATN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1095869
ClinVar RCV Id: RCV001416895
dbSNP Id: rs762787929
ExAC: 2:20205815 G / C
gnomAD v2: 2-20205815-G-C
gnomAD v4: 2-20006054-G-C
MyVariant Identifiers: chr2:g.20205815G>C (hg19) chr2:g.20006054G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20006054G>C , CM000664.2:g.20006054G>C GRCh38
NC_000002.11:g.20205815G>C , CM000664.1:g.20205815G>C GRCh37
NC_000002.10:g.20069296G>C NCBI36
NG_008087.1:g.11641C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.480C>G MANE Select ENSP00000383894.3:p.Thr160=
ENST00000407540.7:c.480C>G ENSP00000383894.3:p.Thr160=
ENST00000421259.2:c.480C>G ENSP00000398753.2:p.Thr160=
NM_002381.4:c.480C>G NP_002372.1:p.Thr160=
NM_002381.5:c.480C>G MANE Select NP_002372.1:p.Thr160=
Search 100 bp 5'
Search 100 bp 3'